FACT VERSUS FICTION.....CURRENT OPINION ON THE

EARLY DIAGNOSIS OF CEREBRAL PALSY

Robyn SmithDepartment of PhysiotherapyUFS2012

Defining Cerebral Palsy (CP)

Always been challenge to defineOlder definitions only focussed

on the motor componentNot comprehensive and inclusive

enough

DEFINING CEREBRAL PALSY (CP)

Cerebral

Palsy (CP)

Cerebral

Motor Disturbance (CMD)

Consensus Definition (2005)“Cerebral Palsy is:

A group of disorders of the development of movement and posture,

causing activity limitation, that are attributed to a non-progressive

disturbance that occurred in the developing foetal or infant

brain. The motor disorders of CP are often

accompanied by disturbances in sensation, cognition, communication, perception, and/or behaviour and/or/by a seizure disorder”

(Developmental Medicine & Child Neurology, 2005)

6 KEY COMPONENTS:

1

•Damage to immature brain

2

•Non-progressive

3

•Disorder of movement and posture

4

•Activity/ function limitation

5

•Associated problems

6

•Epilepsy

6 KEY IMPLICATIONS:

1

•Brain still developing.....neural plasticity & myelinisation incomplete

2

•Damage dies not change ....but clinical picture can

3

•Motor component to the disorder

4

•Results in impairments, activity & participation limitation (ICF)

5

•Range of other challenges relating to communication, perception, sensation

6

•Epilepsy common due to brain damage

Incidence of CPStatistical data varies from country to country Incidence: 2-4/1000 live births (Styer-Acevado ,2008)

Contravening expectations, the incidence has remained unchanged even in 1st world countries

Newest study in US showing an increased incidence in cerebral palsy amongst premature infants (Science Daily, February:2010)

Medical advances in neonatal intensive care has resulted in a decrease in neonatal mortality, and smaller and smaller infants are surviving longer

Incidence of CPUNFORTUNATELY , this is creating

a whole new population of children at risk of marked central nervous system dysfunction

So when does the brain insult occur causing CP?85% congenital in nature

“Perinatal causes” in-utero, during or shortly after birth process

15% postnatal due to e.g. TBI, anoxia, near drowning, meningitis

PERINATAL RISK FACTORS FOR CP

Prenatal risk factorsAnoxia – due conditions

placenta or umbilicusRh and ABO

incompatibility – severe anaemia in newborn

Maternal infectionsMetabolic disorders e.g.

DM, hyperthyroidismGenetic factors

Prenatal risk factorsSubstance addiction of mother e.g.

alcohol, cocaine, nicoteneToxin ingestion Certain medicationsMultiple births e.g. twins and tripletsPET in motherCerebral hemorrhaging in foetus

due sepsis, middle cerebral artery infarct in foetus

Risk factors during labour Cord Prolapse - hypoxia Intrapartum hemorrhaging Prolonged or traumatic deliver

due to malpresentation Shoulder dystotia Maternal shock Cerebral bleed due forceps

delivery

ASPHYXIA=hypoxia & ischaemic brain damange

Risk factors at birth

Prematurity (30 -43% become CP’s)ELBW/ VLBW (40% and 18% chance

severe disability respectively)IUGR

Risks during neonatal period

SeizuresSepsisHIEUncontrolled hypoglycaemiaUntreated severe jaundice

(kernicterus)Neonatal stroke

THE CHALLENGE OF DIAGNOSING CEREBRAL PALSY

Is there is something wrong with my child?

Clinicians often feel like they are treading on eggshells!!!!

Parents want definitive answers that are often not easy to provide

CP notoriously difficult to formally diagnose within the first 12 months of life

Unless child is severely affected

Often difficult to address parents fears and concerns in a satisfactory manner

Why is it so difficult to provide clear cut answers

to parents of infants at risk ??????

Immature Brain : A continuously changing system

A substantial part of the brain’s development occurs in utero. This includes neuronal proliferation, migration and differentiation

Differentiation and neuronal pruning are prolific in the first months of life after birth

The first eighteen months of the normal child’s life is the most significant period of significant and rapid development

The human brain is a extremely complex and

dynamic, constantly changing system

Immature Brain : A continuously changing system

Myelinisation is most significant during the 1st year of life, but is only completed around the age of 30 years of age

Shaping of the nervous system by extrinsic and intrinsic factors e.g. stimulation, exposure, opportunity to practice, internal motivation and personality plays an important role

Brain is in a constant process of remodelling and evolution during childhood

Even though neurons themselves do not regenerate, neural plasticity during childhood may have a marked impact on clinical outcome of children with cerebral damage

Concept of neural plasticityAdaptability and plasticity of the infantile brain Neuronal circuitry of brain reorganises itself,

new synapses form to compensate for areas of damage.

Practice and repetition important here.Plasticity and opportunity for change is

greatest in young children

Thus the value of early intervention programmes

HOW DOES ONE THEN OBJECTIVELY GO ABOUT MAKING A DIAGNOSIS

OF CEREBRAL PALSY IN AN INFANT ????????

How does one make a diagnosis of CMD? Neurological evaluation

Neurological assessment often insensitive & unreliable early on

Dubowitz & Dubowitz’sNew Ballard ScoreMilestones charts

Clinical observations : level of alertness, behavioural status [Neonatal Behavioural Assessment Score (NBAS)]

Regularly measuring and monitoring head circumference

Muscle tone, deep tendon

reflexes, persistent

primitive reflexes, sensory & motor

function dysfunction

Challenges of neurological assessment in infants ............ Accurate execution of neurological testing often complicated Predicting outcome in young infants based on a neurological

assessment is often very difficult Primitive reflexes not always integrated yet Children with transient signs often incorrectly diagnosed Tonal changes & presentation of asymmetry often only visible from

approximately 6/12 Children who initially appear asymptomatic and clinical signs only

appear later Developmental delay and “late bloomers” ? Where do they fall

Misdiagnosis or incorrect diagnosis have huge implications on a family!!!!

LOT OF FALSE POSITVE RESULTS SOME FALSE

NEGATIVE RESULTS

Neurological evaluationClinical neurological evaluation still

widely used as a tool in the diagnosis of neurological dysfunction and cannot be discarded

Performing a comprehensive neurological evaluation in a premature infant often not possible due to their fragile state and health challenges.

The predictive value of results from neurological assessment is far poorer in premature vs. term and older infants.

Dubowitz: New Ballard Score for Neuromuscular maturity

Clinical observation –signs for concern

 Behavioural state disturbances e.g. low arousal level or a child that cannot self soothe

Persisting primitive reflexes e.g. ATNR, grasp, startle Feeding difficulties e.g. coughing, aspirating, takes long to feed Poor interaction with environment e.g. Child will not cuddle Disturbances in muscle tone  Disturbances in movement – asymmetry, failure to develop

righting reactions and delayed development of head control Parents notice child not reaching his milestones as expected, Parents report difficulties with ADL activities e.g. dressing, bathing

Objective diagnosis tools Objective neuro-imaging studies as techniques for studying the neonatal brain

Sensitive enough early on???

MRI CT Cranial Ultrasound EEG

90% children CP will have abnormalities

Neuroimaging studies: Cranial Ultrasound (US)

Serial US is the imaging technique of choice in premature infants and neonate. 

Using this imaging method can show the soft tissues of the brain.

Infants with severe abnormalities have been linked to poor neurological outcome over time. Milder abnormalities shown on US have shown to of less accurate prognostic value.

Neuroimaging studies: Computed Tomography (CT scan)

This is used to be able to see a picture of the brain from many different positions.

Is used to detect abnormalities in the brain structure and tissue.

Neuroimaging studies: Magnetic Resonance Imaging (MRI)

The use of magnets and radio waves to allow a more detail image of the brain.

In children with neurological dysfunction one will look out for areas of brain atrophy indicating under development of the brain

Neuroimaging studies: Electroencephalogram (EEG)

Is used to measure electrical activity in the brain and is performed on babies that have had seizures

total dependence of neuroimaging to diagnose early brain dysfunction in ill and premature infants

Other clinical investigations

If neuroimaging studies do not show any atypical findings the following may be considered :

Metabolic studies metabolic causes are however rare (0-4% of all cases).

Genetic studies

Muscle biopsy to rule out conditions e.g. muscular dystrophy, SMA surgical procedure where an incision approximately 3 inches long is made, and a small section of muscle is removed.  Usually they remove the muscle from the upper thigh. The biopsy is used to check for degeneration of muscle tissue.

Neurophysiological tests electroencephalogram and somatosensory evoked potentials

Prechtl’s method of qualitative

assessment of spontaneous

movements of the infant

???? The way

forward in the early diagnosis of CP

Prechtl’s method of neuromotor assessment Heinz Prechtl pioneer in field of early neurological

development Realised that self generated motility early in development

played an important role in survival and adaptation These spontaneous general movements (GM) are present

from the foetal period until approximately 58 weeks post- conception (4 months).

Prechtl discovered that the quality of these spontaneous general movements accurately reflected the condition of the nervous system in the foetus and young infant

Change in the type of GM strongly related to gestational age

Also affected by endogenous maturation process of the CNS important

To some limited degree, postnatal experience This method is used in the early detection of brain

dysfunction.

How are the images generated? Serial video imaging of infant over time using a portable

video camera set up on a tripod (direct overhead or lateral view of the infant)

GM are also affected by the behavioural state of the child – best state to view GM is the active, awake state or sleeping state in the prem.

If there is too much crying or fussing the video session should be postponed

Infant positioned in supine with the head end of the crib elevated at 30 o

The child is to be clothed in a diaper or short clothing and the crib must be free of restricting devices that may negatively impact on the infants freedom of movement

Duration of the video recording between 10-20 minutes

Done weekly up until 58 weeks post-conception age (4 months)

How is the video material then Interpreted?

Interpretation of the images is based on the “gestalt perception” of the observer.

Based on pattern recognition when viewing static or moving images of GM

Intuitively guidedInter-observer reliability is extremely high,

from studies done it is reported to be between 89-93%

Normal optimal General Movements (GM)

Neuronal network generates signals to the muscles in the absence of sensory input – central pattern generator(CPG)

Series of gross motor movements of variable amplitude, force, intensity and speed

These complex movements involve all body parts including the limbs, trunk and head

Lasts few seconds to a few minutesObserved during the awake and sleep states

of the infantGM are of the first movements the foetus

developsGM show age specific characteristics

Age- specific characteristics of GM  Age specific characteristics:

Preterm GM’s 28 to 36-38 wks gestation Extremely variable Including may pelvic tilts and trunk movements

Writhing GM’s 36-38 to 52 wks post conception age Writhing movement now added Movements seem somewhat slower and less participation of the trunk

and pelvis

Fidgety GM’s 46-52 to 54-58 wks post conception age Continuous flow of small elegant movements, circular movements Superimposed by large and fast movements

Normal optimal General movements (GM)

Complexity and variation of the movements are key

Constant variation of flexion/extension, abduction/adduction and IR/ER limbs

Fluent Gradual beginning & endOver time the infant continuously

produces new movement patterns10- 20% infants

Sub-optimal general Movements (GM)

Sufficient variabilityNot fluentMost infants

Abnormal General Movements (GM)

Loss of the complexity, variability and fluency of GM happens when the CNS is impaired

Stereotypical movements hallmark of early brain dysfunction

The transition periods between the various types of GM are important markers

Abnormal General Movements (GM)

Then described as being:

Poor repertoire –sterotyped, monotonous movements

Cramped synchronous GM- movements appear rigid, lack smooth and fluent character. Limb and trunk muscles contract simultaneously. Strongly associated with later hypertonicity and dyskinetic types of CP

Chaotic movements –appear abrupt, large amplitude

Clinical significance of abnormal GM

PVL, IVH, HIE, IUGR and hyperbilirubinaemia can give rise to abnormal GM’s

Quality of GM’s can be influenced by severe illness and sedation, but these abnormalities may be transient (why series of images over time is important)

GM considered mildly abnormal if periods of atypical movements interspersed with normal GM –long term predictive value less accurately predicted

Neurological evaluation often insensitive in fragile premature infants. GM are of far higher predicative value in these infants.

Better correlation between the neurological evaluation and the assessment of GM improves with increasing age

Clinical significance of abnormal GMPredictive value highest at the stage of transition

to fidgety movements (46-58 wks post-conception)

Infant who do not develop fidgety or show abnormal fidgety movement at an extremely high risk of developing CP

Specificity and sensitivity estimated to be 95% Infants who develop abnormal GM, who do not

develop CMD develop some other developmental disorder.

No studies to date have been done where infants with mildly abnormal GM have been followed up until school going age where perceptual & learning and scholastic difficulties often first present

Mildly abnormal GM associated with ADHD and behavioural problems

Normal evolution of GMAt 15/52 GM start to declineInfant starts to develop other patterns of

spontaneous movementDevelopment then of postural control Followed by typical sensory-motor

development Then observer focus more on the

observation of volitional active movement

??? Employ similar observational methods here

Conclusion............ Highly specific and valid objective

measure for indentifying early neurological dysfunction

Persistently abnormal GM especially relating to repertoire and cramped synchronous movements show a high predictive value of poor neurological outcome over time

Advantages of the qualitative method of assessment of spontaneous movements

Non-invasive Low cost Easy to learn to execute Non time-consuming Ideal for serial observation/assessment over time. The value of

developmental profiles over time is extremely valuable in predicting long term outcome in preterm, term and post-term infants.

More reliable than neurological examination and neuroimaging techniques early on and especially in premature infants

Enables early rehabilitation and intervention and family support allowing the child to reach his full potential

Suggested to be of the greatest clinical value when used in combination with

neurological assessment and neuroimaging techniques in predicting

early neurological dysfunction

Limitations of this assessment method ........ Cannot be used in infants who have severely

depressed neurological status e.g. children with acute severe HIE (often comatose) or children on CNS suppressing medication (sedation)

Cannot completely replace a comprehensive neurological system including assessment of auditory, visual and sensory sub-systems

Method cannot be used in infants that are mechanically ventilated due to restrictive apparatus

Video series may need to be interrupted id the child’s condition deteriorates

Training expensive Local expertise in the execution of the technique

limited, which makes skill transfer in the profession a challenge

So how is this relevant to us as physiotherapists?

As PT’s working in NICU and in early intervention care with this at risk population we needs to be multi-skilled as these infants more often than not have multi-system involved. Unfortunately cannot just focus’ on basic neurodevelopmental care programmes, chest PT or even the odd baby massage.

If working in a NICU one has to be knowledgeable regarding neurodevelopment as we have a critical role to play in initial neurodevelopmental screening , assessment and implementation of early neurodevelopmental therapy intervention programmes to ensure the best possible functional outcome for these children and their families

NEED TO BE COME MORE AWARE OF ADVANCES IN

OUTR FILEDS, AND BECOME MORE OPEN TO TRYING

DIFFERENT EVIDENCE BASED ASSESSMENT AND

INTERVENTION APPROACHES IN THE MANAGEMENT OF OUR

PATIENTS

Training ???Physicians and physiotherapists working in

the NICU and field of infant neurologyEuropeR 10 000 for a 4 day courseCredentialing needed to execute the

technique in an official capacity

References Dubowitz gestational age assessment. 2010. retrieved on 01 March 2010

Available online at : http://neopraxis.org/Dubowitz_gestational_age_assessment.htm

Hadders-Alga, M. 2004. General movements: a window for early identification of children at high risk for developmental disorders

journal of Paediatrics August 2004: S12-S18 Bax, M. Goldstein, M, Rosenbaum, P, Leviton, A & Paneth, N. 2005. Proposed

definition of Cerebral palsy 2005. Developmental Medicine & Child Neurology 2005, 47:571-576

Garcia, J.M., Gherpelli, J.L.D. 7 Leone, C.R. 2004. The role of spontaneous general movements in the neurological outcome of cerbral lesions in preterm infants. Journal de Pediatrica 80(4): 296-304

Cioni, G., Pretchlib, H, Paoliclli F.P.B., Einspielerb, C., Federica, M. & Roversi, C. 1997 . Which better predicts later outcome in fullterm infant: quality of general movements or neurological examination. Early human development 50; 1: 71-75

Nel, M. 2009.Prechtl’s qualitative method of assessment of spontaneous movements . NDT early intervention course (unpublished)

Smith, R. 2010. Aetiology and Classification of CP. Lecture presentation UFS (unpublished)

Styer-Acevado, J. 2008. The infant and child with cerebral palsy in Pediatric Physical Therapy. Lippincott, Williams & Wilkins. Baltimore. Pp179-186